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Jouberts syndrome- a case report
Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 7)Publication Date: 2019-09-03
Authors : AMRITHA M.;
Page : 128-129
Keywords : Joubert syndrome; Developmental delay; Molar tooth sign; Bat wing appearance;
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Abstract
Jouberts syndrome is an autosomal recessive disorder involving cerebellar vermis and brainstem. A 10 month old male infant presented with delayed miles stones and defective vision. On examination decreased muscle tone , nystagmus and coloboma were present. MRI showed characteristic Molar tooth sign and Bat wing appearance of the ventricles.
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Last modified: 2019-09-03 20:48:51